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Splicing factor 3b, subunit 4, 49kDa

SAP49, Splicing factor 3b subunit 4, SF3B4, SF3b49
This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: SAP 145, CAN, HAD, SAP, V1a
Papers on SAP49
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray.
Becher et al., Århus, Denmark. In Eur J Med Genet, Jan 2016
Within the past three years haploinsufficiency of SF3B4 has been confirmed as the major cause of Nager syndrome.
A review of craniofacial disorders caused by spliceosomal defects.
Gordon et al., Paris, France. In Clin Genet, Nov 2015
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms.
[Nager syndrome associated with tetralogy of Fallot: A frequent association?].
Guillois et al., Caen, France. In Arch Pediatr, Sep 2015
region of the SF3B4 gene (splicing factor 3B subunit 4), which encodes a spliceosomal protein (SAP49) involved in the assembly of the spliceosomal complex U2SNP, have been demonstrated in patients with Nager syndrome.
Meta-analysis of gene expression profiles indicates genes in spliceosome pathway are up-regulated in hepatocellular carcinoma (HCC).
Cao et al., Shanghai, China. In Med Oncol, Apr 2015
It was found that many genes of spliceosome pathway such as HSPA1A, SNRPE, SF3B2, SF3B4 and TRA2A genes which we identified to be up-regulated in our meta-analysis were generally overexpressed in HCC.
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
Early Growth Genetics (EGG) Consortium et al., Copenhagen, Denmark. In Hum Mol Genet, Mar 2015
Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2).
PRMT9 is a type II methyltransferase that methylates the splicing factor SAP145.
Bedford et al., United States. In Nat Commun, 2014
Here we identify two spliceosome-associated proteins-SAP145 and SAP49-as PRMT9-binding partners, linking PRMT9 to U2 snRNP maturation.
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Holder-Espinasse et al., Lille, France. In Clin Genet, 2014
Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients.
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.
Grammatico et al., Roma, Italy. In Mol Syndromol, 2014
In 2012, AFD1 has been associated with dominant mutations in SF3B4.
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?
Lin et al., Marshfield, United States. In Am J Med Genet A, 2014
We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies.
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
Mihci et al., Antalya, Turkey. In Am J Med Genet A, 2013
Recently, heterozygous mutations in the SF3B4 gene on chromosome 1q12-q21 were found to be responsible for a subset of sporadic and autosomal dominant cases.
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Wieczorek et al., Essen, Germany. In Hum Genet, 2013
Haploinsufficiency of SF3B4 (MIM *605593), which encodes SAP49, a component of the pre-mRNA spliceosomal complex, has recently been identified as the underlying cause of Nager syndrome.
Association between genetic determinants of peak height velocity during puberty and predisposition to adolescent idiopathic scoliosis.
Qiu et al., Nanjing, China. In Spine (phila Pa 1976), 2013
METHODS: A gene-based association study was conducted using 9 single nucleotide polymorphisms (SNPs) in or near SOCS2, SF3B4/SV2A, C17orf67, CABLES1, DOT1L, CDK6, C6orf106, and LIN28B with confirmed association with PHV, peak growth age, or adult height.
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Parboosingh et al., Calgary, Canada. In Am J Hum Genet, 2012
These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4.
Proteomic and protein interaction network analysis of human T lymphocytes during cell-cycle entry.
Thomas et al., London, United Kingdom. In Mol Syst Biol, 2011
Inhibiting the induction of two proteins involved in two of the most significantly upregulated cellular processes, ribosome biogenesis (eIF6) and hnRNA splicing (SF3B2/SF3B4), showed that human T cells can enter the cell cycle without growing in size.
Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation.
Watanabe et al., Japan. In J Biol Chem, 2007
SF3b4, known to be localized in the nucleus and involved in RNA splicing, binds BMPR-IA and specifically inhibits BMP-mediated osteochondral cell differentiation
Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor.
Waldman et al., Washington, D.C., United States. In Biochem Biophys Res Commun, 2004
SAP49 is regulated by the BMPR-IA tumor suppressor
Molecular architecture of the multiprotein splicing factor SF3b.
Stark et al., Göttingen, Germany. In Science, 2003
determined the three-dimensional structure of the human SF3b complex by single-particle electron cryomicroscopy at a resolution of less than 10 angstroms, allowing identification of protein domains with known structural folds
Toward a functional analysis of the yeast genome through exhaustive two-hybrid screens.
Legrain et al., Paris, France. In Nat Genet, 1997
Using known pre-mRNA splicing factors as initial baits, we were able to characterize new interactions between known splicing factors, identify new yeast splicing factors, including homologues of human SF1 and SAP49, and reveal novel potential functional links between cellular pathways.
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